Description
Meckel syndrome, type 1 [Source:HGNC Symbol;Acc:7121]
Gene Synonyms
BBS13, FLJ20345, MES, MKS, POC12
Location
Chromosome 17: 56,282,803-56,296,966 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 15 transcripts (splice variants), 212 orthologues, 2 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000393119.2 | MKS1-003 | 2392 | 559aa | ENSP00000376827.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11603 | F5H5Y8 Q9NXB0 | NM_017777.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000313863.6 | MKS1-002 | 2091 | 456aa | ENSP00000316631.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y2S2 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000537529.2 | MKS1-001 | 2083 | 549aa | ENSP00000442096.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54148 | F5H5Y8 Q9NXB0 | NM_001165927.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000546108.1 | MKS1-202 | 1926 | 356aa | ENSP00000443012.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H5Y8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000337050.7 | MKS1-201 | 1576 | 521aa | ENSP00000338407.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MPP8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000577824.1 | MKS1-012 | 1158 | 228aa | ENSP00000462460.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000585134.1 | MKS1-010 | 824 | 211aa | ENSP00000463826.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QQP4 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000577315.1 | MKS1-011 | 495 | 117aa | ENSP00000462179.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000393120.2 | MKS1-004 | 1926 | 164aa | ENSP00000376828.2 | Nonsense mediated decay | J9PBQ5 | - | - | |
| ENST00000580127.1 | MKS1-008 | 843 | 146aa | ENSP00000462423.1 | Nonsense mediated decay | J3KSC6 | - | - | |
| ENST00000581761.1 | MKS1-007 | 812 | 121aa | ENSP00000462129.1 | Nonsense mediated decay | J3KRR3 | - | - | |
| ENST00000578789.1 | MKS1-005 | 568 | 48aa | ENSP00000462411.1 | Nonsense mediated decay | J3KSB7 | - | - | |
| ENST00000581180.1 | MKS1-006 | 899 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000583577.1 | MKS1-013 | 697 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000579358.1 | MKS1-009 | 567 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
